Juvenile Brain Disease (JBD) – Juvenile Encephalopathy
Kodas: H779
Short description
Juvenile Brain Disease (JBD), also known as Juvenile Encephalopathy, is a severe neurological condition.
General information
Juvenile Brain Disease (JBD), also known as Juvenile Encephalopathy, is a severe neurological condition. It causes a lack of coordination in movement, severe brain deterioration and epilepsy. The disease is caused by an autosomal recessive mutation to the pitrilysin metallopeptidase 1 (PITRM1) gene. It is observed in the Parson Russell Terrier and Jack Russel Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | PITRM1 |
| Chromosome | 2 |
| Mutation | c.175_180del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The main symptoms typically appear between 6 and 12 weeks of age. Affected puppies suffer from progressively worsening epileptic seizures, with rapid disease progression leading to permanent brain damage and ultimately death. The brain damage can cause lack of coordination (ataxia) and difficulty with movement. Some dogs also may have vision issues due to brain damage affecting visual processing. Most affected puppies do not survive beyond a few months of age due to the severity of the disease.
References
Pubmed ID: 33835239
Year published: 2021
Omia ID: 2324
Omia variant ID:
Turnaround information
- 10 working days